A patient with jaundice next to a patient withoutFrom: online.epocrates.com

Gilbert’s syndrome is an inherited condition in which the affected patient’s liver has a decreased ability to process bilirubin. Bilirubin is a naturally occurring substance in the body that is released from the breakdown of the oxygen-carrying molecule hemoglobin which is found in red blood cells. In a healthy person, bilirubin from the degradation of hemoglobin (called indirect or unconjugated bilirubin) is then taken up by the liver where it is processed to a form (direct or conjugated bilirubin) that is eventually used as a component of bile. Bile is the substance stored in the gall bladder which is used by the body to aid in fat digestion. In a person with Gilbert’s syndrome, the enzyme responsible for this conversion is deficient, allowing for a potential buildup of indirect/unconjugated bilirubin in the blood. Interestingly, patients with Gilbert’s syndrome are almost always asymptomatic. However in certain situations, stress on the body, such as our patient’s academic demands and fasting, can overwhelm the liver of a Gilbert’s patient resulting in jaundice. Jaundice is the yellowing of the skin and the sclera of the eyes characteristic of too much bilirubin in the blood.

Though this patient had some risk factors for other causes of jaundice such as viral hepatitis or potentially excessive alcohol use, such etiologies would be expected to produce more symptoms than just isolated jaundice, and are thus moved further down the list of potential diagnoses. The appearance of jaundice alone during times of stress or fasting in a young male patient is highly suggestive of Gilbert’s syndrome. This patient will likely receive blood tests to characterize the level of his deficiency and be monitored by his physician to ensure the condition does not cause more serious problems in the future, but he will be unlikely to require any treatment.

While Gilbert’s syndrome is caused by a deficiency of the bilirubin processing enzyme in the liver, there is another condition which is marked by a complete absence of this enzyme: the ominously named and rapidly fatal Crigler-Najjar Syndrome. Crigler-Najjar syndrome appears in infancy and is extremely rare.